"Not pathogenic until proven otherwise": perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project.
"Not pathogenic until proven otherwise": perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project.
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DOI：
10.1038/gim.2017.157
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发表时间：
2018-03
期刊：
影响因子：
--
通讯作者：
Watkins H
中科院分区：
文献类型：
--
作者：
Ormondroyd E;Mackley MP;Blair E;Craft J;Knight JC;Taylor JC;Taylor J;Watkins H
基因组测序(GS)中二次发现的方法尚未解决。在英国，GS现在可以通过100,000基因组计划定期获得，该计划为参与者提供有限二次发现的反馈。在牛津，一个基因组医学多学科小组(GM-MDT)管理当地获得GS的机会，并审查研究结果。对19名GM-MDT成员进行了半结构化访谈，以探索对二次发现的看法。尽管成员们对GS用于诊断罕见疾病充满热情，但他们质疑基因组筛查的理由，主要是因为缺乏临床实用的证据，而且资源使用的理由有限。成员们的观点来自不同的经历；他们感到有强烈的责任感，以参与者的最佳利益为行动。应该允许返回有限的二次调查结果的能力，但成员们倾向于采取谨慎的方法，对积累的证据作出反应。知情的参与者选择被认为是关键的，但也是具有挑战性的。对变种的歧视被认为是必要的，需要专家的投入和协商一致。确定了需要加强参与和教育的多个领域，即针对患者、公众和卫生保健专业人员；目前，将基因组学纳入主流可能还为时过早。英国专家认为，缺乏为二次调查结果提供政策依据的证据，他们认为应该谨慎行事。本文的在线版本(doi：10.1038/gim.2017.157)包含补充材料，授权用户可以使用。
Approaches to secondary findings in genome sequencing (GS) are unresolved. In the United Kingdom, GS is now routinely available through the 100,000 Genomes Project, which offers participants feedback of limited secondary findings. In Oxford, a Genomic Medicine Multidisciplinary Team (GM-MDT) governs local access to GS, and reviews findings. Semistructured interviews were conducted with 19 GM-MDT members to explore perspectives on secondary findings. While enthusiastic about GS for diagnosing rare disease, members question the rationale for genome screening largely because of lack of evidence for clinical utility and limited justification for use of resources. Members’ views are drawn from diverse experiences; they feel a strong sense of responsibility to act in participants’ best interests. The capacity to return limited secondary findings should be enabled, but members favor a cautious approach that is responsive to accumulating evidence. Informed participant choice is considered critical, yet challenging. Discrimination of variants is considered essential, and requiring of specialist input and consensus. Multiple areas requiring enhanced engagement and education are identified, i.e., for patients, the public, and health-care professionals; at present, mainstreaming of genomics may be premature. UK experts believe that evidence to inform policy toward secondary findings is lacking, arguing for caution. The online version of this article (doi:10.1038/gim.2017.157) contains supplementary material, which is available to authorized users.
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DOI：
10.1038/gim.2013.73
发表时间：
2013-07
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
通讯作者：
--
影响因子：
4
作者：
Boycott K;Hartley T;Adam S;Bernier F;Chong K;Fernandez BA;Friedman JM;Geraghty MT;Hume S;Knoppers BM;Laberge AM;Majewski J;Mendoza-Londono R;Meyn MS;Michaud JL;Nelson TN;Richer J;Sadikovic B;Skidmore DL;Stockley T;Taylor S;van Karnebeek C;Zawati MH;Lauzon J;Armour CM;Canadian College of Medical Geneticists
通讯作者：
Canadian College of Medical Geneticists
影响因子：
2
作者：
Lohn, Zoe;Adam, Shelin;Friedman, Jan
通讯作者：
Friedman, Jan
影响因子：
5.2
作者：
Ayuso, Carmen;Millan, Jose M.;Dal-Re, Rafael
通讯作者：
Dal-Re, Rafael
影响因子：
8.8
作者：
Kalia, Sarah S.;Adelman, Kathy;Miller, David T.
通讯作者：
Miller, David T.